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Salla disease
(phenotype)
Summary
General Info
Genetic Markers
Most Correlated Genes
Most Correlated SNPs
SLC17A5
No SNPs found
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Pathway Enrichment
Most Correlated Biogroups
carbohydrate transmembrane transporter activity
REACTOME_AMINO_ACID_AND_OLIGOPEPTIDE_SLC_TRANSPORTERS
PAPASPYRIDONOS_UNSTABLE_ATEROSCLEROTIC_PLAQUE_UP
chr6q14
Major facilitator superfamily
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OMIM - Congenital disorder
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Most Relevant Literature
Psychiatric symptoms in Salla disease.
Longitudinal Characterization of the Clinical Course of Intermediate-Severe Salla Disease.
A New Patient With Intermediate Severe Salla Disease With Hypomyelination: A Literature Review for S…
A 13-year follow-up of Finnish patients with Salla disease.
Base editing corrects the common Salla disease SLC17A5 c.115C>T variant.
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Clinical Trials
Most Relevant Clinical Trials
Combining Cereals With Pulses - Reduced Gastrointestinal Symptoms?
Impact of Regular Home Use of Lumoral Dual-light Photodynamic Therapy on Plaque Control and Gingival…
Evaluation of the MiniMed 780 System in Paediatric Subjects
A 6 Month Study to Compare the Metabolic Effects of Paliperidone ER and Olanzapine in Patients With …
Early Administration of the Lutein/Zeaxanthin in Premature Newborns
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